{{Rsnum
|rsid=104894629
|Gene=PNPO
|Chromosome=17
|position=47946681
|Orientation=plus
|GMAF=0.0004591
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=PNPO
}}{{omim
|id=603287
|rsnum=104894629
|variant=0001
}}Also known as PNPO Arg229Trp. Lower PNPO activity with T allele. PNPO produces pyridoxal-5'-phosphate, the bio-active form of vitamin B6.{{ClinVar
|rsid=104894629
|Reversed=0
|FwdREF=C
|FwdALT=T
|REF=C
|ALT=T
|RSPOS=46024047
|CHROM=17
|GMAF=0.0005
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050260000000000016110100
|GENEINFO=PNPO:55163
|GENE_NAME=PNPO
|GENE_ID=55163
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000017.10:g.46024047C>T
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=603287.0001
|CLNSIG=5
|CLNCUI=C1864723
|CLNDBN=Pyridoxal 5'-phosphate-dependent epilepsy
|Disease=Pyridoxal 5'-phosphate-dependent epilepsy
|CLNACC=RCV000006896.1
|Tags=PM;S3D;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9995; 0.0004591
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C1864723:610090:79096
|COMMON=0
}}